multiple endocrine neoplasia type 2A

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


melanoma and neural system tumor syndrome


Abnormality of body height

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Abnormal morphology of female internal genitalia


Abnormal male internal genitalia morphology


Functional abnormality of male internal genitalia


Abnormal male external genitalia morphology


Abnormal female external genitalia morphology


Abnormality of reproductive system physiology


Renal juxtaglomerular cell hypertrophy/hyperplasia


Abnormal cranial suture/fontanelle morphology


Abnormal periauricular region morphology


Prelingual sensorineural hearing impairment


Progressive sensorineural hearing impairment


Increased adipose tissue around the neck


Abnormal amplitude of pattern reversal visual evoked potentials


Decreased light- and dark-adapted electroretinogram amplitude


Palpebral fissure narrowing on adduction


Macrodontia of permanent maxillary central incisor


Impaired ability to form peer relationships


Abnormal nonverbal communicative behavior


Increased circulating gonadotropin level


Increased circulating renin concentration


Neonatal insulin-dependent diabetes mellitus


Abnormality of the hypothalamus-pituitary axis


Insulin-resistant diabetes mellitus at puberty


Abnormality of the costochondral junction


Enlargement of the costochondral junction


Elevated imprint of the transverse sinuses


Thinning and bulging of the posterior fossa bones


Abnormal posterior cranial fossa morphology


Posterior fossa cyst at the fourth ventricle


Dermatological manifestations of systemic disorders


Accumulation of melanosomes in melanocytes


Skin dimple over apex of long bone angulation


Absent dorsal skin creases over affected joints


Ulnar deviation of the hand or of fingers of the hand


Abnormalities of placenta or umbilical cord


Abnormality of prenatal development or birth


Interphalangeal joint contracture of finger


Pointed proximal second through fifth metacarpals


Abnormal nervous system electrophysiology


EEG with irregular generalized spike and wave complexes


Abnormality of the shoulder girdle musculature


Abnormality of the musculature of the lower limbs


Abnormality of the musculature of the upper limbs


Abnormality of the musculature of the upper arm


Aplasia/Hypoplasia involving the skeletal musculature


Aplasia/Hypoplasia involving the shoulder musculature


Delayed closure of the anterior fontanelle


Widely-spaced maxillary central incisors


Pigmented micronodular adrenocortical disease


Right ventricular outlet tract obstruction


High-frequency sensorineural hearing impairment


Acroosteolysis of distal phalanges (feet)


Increased circulating hemoglobin concentration


Abnormal glomerular mesangium morphology


Reduced lymphocyte surface expression of CD43


Curved linear dimple below the lower lip


Abnormality of extrapyramidal motor function


Increased neuronal autofluorescent lipopigment


Abnormality of the upper respiratory tract


Increased circulating lactate concentration


Impaired vibration sensation in the lower limbs


Diffuse reticular or finely nodular infiltrations


Melanin pigment aggregation in hair shafts


Abnormality of the autonomic nervous system


Degeneration of the lateral corticospinal tracts


Eye of the tiger anomaly of globus pallidus


Cerebellar dentate nucleus calcification


Calcification of the small brain vessels


Abnormal periventricular white matter morphology


Patchy demyelination of subcortical white matter


Parkinsonism with favorable response to dopaminergic medication


Paresis of extensor muscles of the big toe


Venous varicosities of celiac and mesenteric vessels


Right aortic arch with mirror image branching


Hypertension associated with pheochromocytoma


Arteriovenous fistulas of celiac and mesenteric vessels


Absence of bactericidal oxidative respiratory burst in phagocytes


Recurrent Staphylococcus aureus infections


Recurrent Serratia marcescens infections


Respiratory insufficiency due to muscle weakness


Recurrent lower respiratory tract infections


Recurrent upper respiratory tract infections


Recurrent Burkholderia cepacia infections


Decreased specific anti-polysaccharide antibody level


Elevated double-negative T cell proportion


Increased HLA DR+ CD4+ T cell proportion


Apneic episodes precipitated by illness, fatigue, stress


Elevated circulating hepatic transaminase concentration


Decreased circulating ACTH concentration


Elevated circulating thyroid-stimulating hormone concentration


Decreased activity of the pyruvate dehydrogenase complex


Leydig cell insensitivity to gonadotropin


Abnormal delayed hypersensitivity skin test


Absent microvilli on the surface of peripheral blood lymphocytes


Aplasia/Hypoplasia involving the central nervous system


Bowing of limbs due to multiple fractures


Defective DNA repair after ultraviolet radiation damage


Hypoplasia of the capital femoral epiphysis


Abnormal circulating cholesterol concentration


Abnormal circulating amino acid concentration


Abnormal circulating hormone concentration


Abnormality of the spinocerebellar tracts


Abnormality of peripheral nerve conduction


T-wave inversion in the right precordial leads


Decreased circulating adenosylcobalamin concentration


Elevated circulating alkaline phosphatase concentration


Abnormal isoelectric focusing of serum transferrin


Elevated urinary delta-aminolevulinic acid


Hypothalamic gonadotropin-releasing hormone deficiency


Elevated circulating parathyroid hormone level


Intracellular accumulation of autofluorescent lipopigment storage material


Curvilinear intracellular accumulation of autofluorescent lipopigment storage material


Fingerprint intracellular accumulation of autofluorescent lipopigment storage material


Decreased methylmalonyl-CoA mutase activity


Deficient excision of UV-induced pyrimidine dimers in DNA


Chromosomal breakage induced by crosslinking agents


Decreased circulating methylcobalamin concentration


Increased cellular sensitivity to UV light


Rectilinear intracellular accumulation of autofluorescent lipopigment storage material


Decreased circulating carnitine concentration


Increased phosphoribosylpyrophosphate synthetase level


Gonadal tissue inappropriate for external genitalia or chromosomal sex


Elevated circulating creatinine concentration


Reduced orotidine 5-prime phosphate decarboxylase level


Decreased circulating alkaline phosphatase activity


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Elevated circulating catecholamine level


Focal necrosis of right ventricular muscle cells


Impaired lymphocyte transformation with phytohemagglutinin


Decreased circulating renin concentration


Endopolyploidy on chromosome studies of bone marrow


Increased VLDL cholesterol concentration


Enlargement of the proximal femoral epiphysis


Decreased number of peripheral myelinated nerve fibers


Decreased number of large peripheral myelinated nerve fibers


Generalized hypotonia due to defect at the neuromuscular junction


Abnormal synaptic transmission at the neuromuscular junction


EMG: decremental response of compound muscle action potential to repetitive nerve stimulation


Distal sensory impairment of all modalities


Proximal femoral metaphyseal irregularity


Decreased motor nerve conduction velocity


Decreased sensory nerve conduction velocity


Increased rate of premature chromosome condensation


Increased circulating iron concentration


Elevated circulating long chain fatty acid concentration


Low urinary cyclic AMP response to PTH administration


Increased urinary O-linked sialopeptides


Increased extraneuronal autofluorescent lipopigment


Paradoxical increased cortisol secretion on dexamethasone suppression test


Reduced ratio of renal calcium clearance to creatinine clearance


Deficiency or absence of cytochrome b(-245)


Birth length greater than 97th percentile


Disproportionate short-trunk short stature


Elevated circulating calcitonin concentration


Parathormone-independent increased renal tubular calcium reabsorption


Elevated circulating glutaric acid concentration


Reduced acetaldehyde dehydrogenase level


Increased circulating pyruvate concentration


Subsarcolemmal accumulations of abnormally shaped mitochondria


Increased variability in muscle fiber diameter


Decreased glucosephosphate isomerase level


Foam cells with lamellar inclusion bodies


Premature separation of centromeric heterochromatin


Loss of subcutaneous adipose tissue in limbs


Electron transfer flavoprotein-ubiquinone oxidoreductase defect


Reduced level of N-acetylglucosaminyltransferase II


Vascular granular osmiophilic material deposition


Centrally nucleated skeletal muscle fibers


Cytochrome C oxidase-negative muscle fibers


Generalized muscular appearance from birth


Genetic anticipation with paternal anticipation bias


Type 1 fibers relatively smaller than type 2 fibers


Percussion-induced rapid rolling muscle contractions


Decreased CSF homovanillic acid concentration


Type 1 and type 2 muscle fiber minicore regions


Deposits immunoreactive to beta-amyloid protein


Muscle abnormality related to mitochondrial dysfunction


Abnormal upper limb epiphysis morphology


Cortical diaphyseal thickening of the upper limbs


Cortical subperiosteal resorption of humeral metaphyses


Abnormality of the joint spaces of the elbow


Irregular articular surfaces of the elbow joints


Abnormality of the epiphyses of the elbow


Sclerotic foci of metaphyses of the elbow


Premature fusion of the radial epiphyseal plates


Osteoarthritis of the small joints of the hand


Subluxation of the small joints of the hand


Abnormal gastrointestinal vascular morphology


Abnormal anterior eye segment morphology


Abnormal posterior eye segment morphology


Abnormal circulating carboxylic acid concentration


Abnormal circulating leucine concentration


Abnormal circulating fatty-acid concentration


Abnormal circulating leptin concentration


Abnormal circulating calcium concentration


Abnormal circulating tryptophan concentration


Abnormality of alkaline phosphatase level


Decreased circulating complement C8 concentration


Delayed brainstem auditory evoked response conduction time


Aplasia cutis congenita over the scalp vertex


Chronic rhinitis due to narrow nasal airway


Large clumps of pigment irregularly distributed along hair shaft


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


Supernumerary vertebral ossification centers


Absent or minimally ossified vertebral bodies


Anterior beaking of lower thoracic vertebrae


Anterior concavity of thoracic vertebrae


Progressive intervertebral space narrowing


Decreased cervical spine flexion due to contractures of posterior cervical muscles


Elevated amniotic fluid alpha-fetoprotein


Abnormal renal collecting system morphology


Effort-induced polymorphic ventricular tachycardia


Post-angioplasty coronary artery restenosis


Ph-positive acute lymphoblastic leukemia


Elevated bone marrow ring sideroblast count


Impaired ADP-induced platelet aggregation


Respiratory failure requiring assisted ventilation


Intermittent episodes of respiratory insufficiency due to muscle weakness


Hypokalemic hypochloremic metabolic alkalosis


Bicarbonate-wasting renal tubular acidosis


Orthostatic hypotension due to autonomic dysfunction


Abnormality of the pulmonary vasculature


Arteriosclerosis of small cerebral arteries


Extracranial internal carotid artery dissection


Erlenmeyer flask deformity of the femurs


Slender long bones with narrow diaphyses


Multicentric ossification of proximal humeral epiphyses


Aplasia/Hypoplasia of the capital femoral epiphysis


Femoral bowing present at birth, straightening with time


Osteomyelitis leading to amputation due to slow healing fractures


Proximal humeral metaphyseal irregularity


Cone-shaped epiphyses fused within their metaphyses


Premature birth following premature rupture of fetal membranes


Calcification of the auricular cartilage


Posterior scalloping of vertebral bodies


Congenital hypertrophy of left ventricle


Anomalous origin of right pulmonary artery from ascending aorta


Complete heart block with broad QRS complexes


Complete heart block with narrow QRS complexes


Premature coronary artery atherosclerosis


Proximal finger joint hyperextensibility


Aplasia of the abdominal wall musculature


Hypoplasia of the abdominal wall musculature


Increased anterioposterior diameter of thorax


Unilateral absence of pectoralis major muscle


Abnormal facility in opposing the shoulders


Premature delivery because of cervical insufficiency or membrane fragility


Intimal thickening in the coronary arteries


Postural hypotension with compensatory tachycardia


Anomalous branches of internal carotid artery


Extension of hair growth on temples to lateral eyebrow


Decreased circulating complement factor I concentration


Recurrent streptococcus pneumoniae infections


Decreased circulating complement factor H concentration


Recurrent Haemophilus influenzae infections


Depletion of components of the alternative complement pathway


Decreased circulating complement factor B concentration


Recurrent gram-negative bacterial infections


Decreased circulating complement C3 concentration


Dysfunctional alternative complement pathway


Recurrent infections in infancy and early childhood


Midline skin dimples over anterior/posterior fontanelles


Chronic disseminated intravascular coagulation


Absence of renal corticomedullary differentiation


Reduced renal corticomedullary differentiation


Increased renal tubular phosphate reabsorption


Decreased renal tubular phosphate excretion


Impaired renal tubular reabsorption of chloride


Tubular basement membrane disintegration


Macular hypopigmented whorls, streaks, and patches


Facial telangiectasia in butterfly midface distribution


Large cafe-au-lait macules with irregular margins


Posterior fusion of lumbosacral vertebrae


Decreased anterioposterior diameter of lumbar vertebral bodies


Abnormal vertebral segmentation and fusion


Rudimentary postaxial polydactyly of hands


Tongue-like lumbar vertebral deformities


Dysplastic distal thumb phalanges with a central hole


Partial fusion of proximal row of carpal bones


Increased bone density with cystic changes


Spinal stenosis with reduced interpedicular distance


Easily subluxated first metacarpophalangeal joints


Disproportionate shortening of the tibia


Fifth finger distal phalanx clinodactyly


Absent fourth finger distal interphalangeal crease


Cortical thickening of long bone diaphyses


Shortening of all distal phalanges of the toes


Calcific stippling of infantile cartilaginous skeleton


Enlarged sagittal diameter of the cervical canal


Radial deviation of thumb terminal phalanx


Delayed pneumatization of the mastoid process


Rhomboid or triangular shaped 5th finger middle phalanx


Abnormal metacarpal epiphysis morphology


Aplasia/Hypoplasia involving the metacarpal bones


Abnormal epiphysis morphology of the phalanges of the hand


Aplasia/hypoplasia involving bones of the hand


Abnormal renal corticomedullary differentiation


Abnormal respiratory motile cilium morphology


Ventilator dependence with inability to wean


Mixed respiratory and metabolic acidosis


Delayed phalangeal epiphyseal ossification


Reduced proximal interphalangeal joint space


Cone-shaped epiphyses of phalanges 2 to 5


1-5 finger complete cutaneous syndactyly


Shortening of all middle phalanges of the fingers


Expanded phalanges with widened medullary cavities


Shortening of all distal phalanges of the fingers


Premature fusion of phalangeal epiphyses


Shortening of all proximal phalanges of the fingers


Swan neck-like deformities of the fingers


Short metacarpals with rounded proximal ends


Soft tissue swelling of interphalangeal joints


Prominent proximal interphalangeal joints


Flattened, squared-off epiphyses of tubular bones


Metacarpal diaphyseal endosteal sclerosis


Proximal phalangeal periosteal thickening


Two carpal ossification centers present at birth


Enlarged proximal interphalangeal joints


Hypermobility of distal interphalangeal joints


Decreased movement range in interphalangeal joints


Hypersegmentation of proximal phalanx of second finger


Metaphyseal cupping of proximal phalanges


Partial-complete absence of 5th phalanges


Thin proximal phalanges with broad epiphyses of the hand


Single interphalangeal crease of fifth finger


Limited mobility of proximal interphalangeal joint


Tapering pointed ends of distal finger phalanges


Osteoarthritis of the first carpometacarpal joint


Expanded metacarpals with widened medullary cavities


Shortening of all middle phalanges of the toes


Swelling of proximal interphalangeal joints


Elevated circulating alpha-fetoprotein concentration


Abnormal phalangeal joint morphology of the hand


Marked delay in eruption of permanent teeth


Prolonged bleeding after dental extraction


Shovel-shaped maxillary central incisors


Peg-like central prominence of distal tibial metaphyses


Abnormal proximal femoral metaphysis morphology


Disproportionate prominence of the femoral medial condyle


Enlargement of the distal femoral epiphysis


Increased density of long bone diaphyses


Multicentric ossification of proximal femoral epiphyses


Lateral displacement of the femoral head


Periosteal thickening of long tubular bones


Abnormality of the pancreatic islet cells


Abnormal lower-limb metaphysis morphology


Aplasia/hypoplasia involving bones of the lower limbs


Aplasia/hypoplasia involving bones of the upper limbs


Aplasia/Hypoplasia involving the carpal bones


Progressive pulmonary function impairment


Decreased mitochondrial complex III activity in liver tissue


Malformation of the hepatic ductal plate


Reduced number of intrahepatic bile ducts


Intrahepatic cholestasis with episodic jaundice


Irregular ossification at anterior rib ends


Progressive calcification of costochondral cartilage


Decreased number of sternal ossification centers


Thickening of the lateral border of the scapula


Ventricular preexcitation with multiple accessory pathways


Short chordae tendineae of the tricuspid valve


Polymorphic and polytopic ventricular extrasystoles


Abnormal atrioventricular valve morphology


Aplasia/Hypoplasia involving bones of the thorax


Hereditary nonpolyposis colorectal carcinoma


White mater abnormalities in the posterior periventricular region


Aplasia/Hypoplasia of the cerebellar vermis


Pallor of dorsal columns of the spinal cord


Developmental stagnation at onset of seizures


Symmetric spinal nerve root neurofibromas


Symmetrical progressive peripheral demyelination


Inability to walk by childhood/adolescence


Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material


Loss of Purkinje cells in the cerebellar vermis


Symmetric T2-signal increase with T1-signal decrease in the putamen


Multifocal cerebral white matter abnormalities


Aplasia of the inferior half of the cerebellar vermis


Disorganization of the anterior cerebellar vermis


Decreased amplitude of sensory action potentials


Hypointensity of cerebral white matter on MRI


Prolonged somatosensory evoked potentials


Progressive extrapyramidal movement disorder


Progressive extrapyramidal muscular rigidity


Diffuse demyelination of the cerebral white matter


Focal T2 hyperintense basal ganglia lesion


Bilateral tonic-clonic seizure on awakening


Decreased distal sensory nerve action potential


Spinocerebellar tract disease in lower limbs


Decreased number of small peripheral myelinated nerve fibers


Severe demyelination of the white matter


Facial palsy secondary to cranial hyperostosis


Chaotic rapid conjugate ocular movements


Dysfunction of lateral corticospinal tracts


Mixed demyelinating and axonal polyneuropathy


Bilateral tonic-clonic seizure with focal onset


Diffuse swelling of cerebral white matter


Abnormal morphology of the limbic system


Atrophy/Degeneration involving the spinal cord


Aplasia/Hypoplasia of the pyramidal tract


Atrophy/Degeneration affecting the brainstem


Atrophy/Degeneration affecting the central nervous system


Atrophy/Degeneration affecting the cerebrum


Aplasia/Hypoplasia of the corpus callosum


Atrophy/Degeneration involving the corticospinal tracts


Atrophy/Degeneration involving the caudate nucleus


Abnormality of somatosensory evoked potentials


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Excessive skin wrinkling on dorsum of hands and fingers


Neonatal wrinkled skin of hands and feet


Intermittent generalized erythematous papular rash


Mottled pigmentation of the trunk and proximal extremities


Increased groin pigmentation with raindrop depigmentation


Axillary and groin hyperpigmentation and hypopigmentation


Decreased sweating due to autonomic dysfunction


Linear arrays of macular hyperkeratoses in flexural areas


Discrete 2 to 5-mm hyper- and hypopigmented macules


Focal friction-related palmoplantar hyperkeratosis


Streaks of hyperkeratosis along each finger onto the palm


Mottled pigmentation of photoexposed areas


Yellow subcutaneous tissue covered by thin, scaly skin


Aplasia cutis congenita of midline scalp vertex


Absent pigmentation of the ventral chest


Abnormal subcutaneous fat tissue distribution


Congenital symmetrical palmoplantar keratosis


Mediosternal, longitudinal streak of hypopigmentation


Skin fragility with non-scarring blistering


Aplasia cutis congenita on trunk or limbs


Aplasia cutis congenita over posterior parietal area


Aplasia/Hypoplasia of the eccrine sweat glands


Bilateral single transverse palmar creases


Generalized reticulate brown pigmentation


Pigmentation anomalies of sun-exposed skin


Peripheral tractional retinal detachment


Congenital hypertrophy of retinal pigment epithelium


Eversion of lateral third of lower eyelids


Abnormality of chorioretinal pigmentation


Impaired pursuit initiation and maintenance


Undetectable light- and dark-adapted electroretinogram


Central retinal vessel vascular tortuosity


Patchy atrophy of the retinal pigment epithelium


Nonprogressive restrictive external ophthalmoplegia


Amyloid deposition in the vitreous humor


Restrictive partial external ophthalmoplegia


Iridescent posterior subcapsular cataract


Juvenile posterior subcapsular lenticular opacities


Optic atrophy from cranial nerve compression


Central fundal arteriolar microaneurysms


Aplasia/Hypoplasia affecting the anterior segment of the eye


Low maternal circulating estriol concentration


2nd-5th toe middle phalangeal hypoplasia


Abnormality of the fifth metatarsal bone


Expanded metatarsals with widened medullary cavities


Plantar crease between first and second toes


Metatarsal diaphyseal endosteal sclerosis


Impaired epinephrine-induced platelet aggregation


Elevated serum transaminases during infections


Decreased Arden ratio of electrooculogram


Absence of secondary sex characteristics


Precocious puberty with Sertoli cell tumor


Insulin-dependent but ketosis-resistant diabetes


Elevated circulating follicle stimulating hormone level


Thyroid defect in oxidation and organification of iodide


Increased red cell hemolysis by shear stress


Abnormal iron deposition in mitochondria


Spinal cord posterior columns myelin loss


Impaired collagen-induced platelet aggregation


Abnormal light- and dark-adapted electroretinogram


Partial functional complement factor D deficiency


Elevated circulating branched chain amino acid concentration


Decreased activity of mitochondrial complex IV


Decreased circulating IgG2 concentration


Abnormal circulating vitamin A concentration


Recurrent loss of toenails and fingernails


Cuboid-shaped thoracolumbar vertebral bodies


Absent in utero ossification of vertebral bodies


Progressive cervical vertebral spine fusion


Narrow vertebral interpedicular distance


Absent spinous processes of lower thoracic and lumbar vertebrae


Lower thoracic interpediculate narrowness


Narrow anterio-posterior vertebral body diameter


Cervical vertebral bodies with decreased anteroposterior diameter


Abnormality of the vertebral spinous processes


Congenital sensorineural hearing impairment


Cleft at the superior portion of the pinna


Low-frequency sensorineural hearing impairment


Slit-like opening of the exterior auditory meatus


Congenital conductive hearing impairment


Postlingual sensorineural hearing impairment


Progressive conductive hearing impairment


Infantile sensorineural hearing impairment


Adult onset sensorineural hearing impairment


Bilateral sensorineural hearing impairment


Pubertal developmental failure in females


Uric acid urolithiasis independent of gout


Aplasia/Hypoplasia of the fallopian tube


Impaired histidine renal tubular absorption


Gonadal dysgenesis with female appearance, male


Female external genitalia in individual with 46,XY karyotype


Self-mutilation of tongue and lips due to involuntary movements


Early ossification of capital femoral epiphyses


Absent ossification of capital femoral epiphysis


Delayed proximal femoral epiphyseal ossification


Stippled calcification proximal humeral epiphyses


Failure to thrive secondary to recurrent infections


Disproportionate short-limb short stature


Childhood-onset short-trunk short stature


Loss of ability to walk in early childhood


Muscle hypertrophy of the lower extremities


Decreased activity of mitochondrial respiratory chain


Loss of truncal subcutaneous adipose tissue


Increased subcutaneous truncal adipose tissue


Loss of gluteal subcutaneous adipose tissue


Progressive loss of facial adipose tissue


Loss of subcutaneous adipose tissue from upper limbs


Weakness of long finger extensor muscles


Abnormal ossification involving the femoral head and neck


Aplasia/Hypoplasia involving the femoral head and neck


Aplasia/Hypoplasia involving bones of the skull


Aplasia/Hypoplasia of the frontal sinuses


Mixed hypo- and hyperpigmentation of the skin


Abnormality of the musculature of the limbs


Osteolysis involving bones of the lower limbs


Depletion of mitochondrial DNA in muscle tissue


Aplasia/Hypoplasia of the middle phalanx of the 5th finger


Abnormal calcification of the carpal bones


Proximal/middle symphalangism of 5th finger


Triangular shaped middle phalanx of the 5th finger


Contracture of the distal interphalangeal joint of the 5th finger


Contracture of the proximal interphalangeal joint of the 5th finger


Fragmentation of the metacarpal epiphyses


Short proximal phalanx of the 5th finger


Distal/middle symphalangism of 5th finger


Aplasia of the distal phalanx of the 5th finger


Contracture of the distal interphalangeal joint of the 4th finger


Contracture of the proximal interphalangeal joint of the 4th finger


Enlarged epiphysis of the middle phalanx of the 3rd finger


Triangular epiphysis of the middle phalanx of the 3rd finger


Enlarged epiphysis of the proximal phalanx of the 3rd finger


Triangular epiphysis of the proximal phalanx of the 3rd finger


Aplasia of the distal phalanx of the 3rd finger


Triangular shaped middle phalanx of the 3rd finger


Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


Triangular shaped proximal phalanx of the 3rd finger


Contracture of the proximal interphalangeal joint of the 3rd finger


Proximal/middle symphalangism of 4th finger


Deviation of the hand or of fingers of the hand


Enlarged epiphysis of the middle phalanx of the 2nd finger


Triangular epiphysis of the middle phalanx of the 2nd finger


Enlarged epiphysis of the proximal phalanx of the 2nd finger


Triangular epiphysis of the proximal phalanx of the 2nd finger


Contracture of the proximal interphalangeal joint of the 2nd finger


Aplasia of the distal phalanx of the 2nd finger


Aplasia/Hypoplasia of the middle phalanx of the 2nd finger


Triangular shaped middle phalanx of the 2nd finger


Triangular shaped proximal phalanx of the 2nd finger


Abnormal vestibulocochlear nerve morphology


Aplasia of the proximal phalanx of the 2nd finger


Short proximal phalanx of the 2nd finger


Complete duplication of distal phalanx of the thumb


Complete duplication of proximal phalanx of the thumb


Abnormality of the distal phalanx of the thumb


Metacarpophalangeal thumb joint contracture


Synostosis of the proximal phalanx of the thumb with the 1st metacarpal


Triangular shaped distal phalanx of the thumb


Aplasia/Hypoplasia of the phalanges of the thumb


Abnormality of the epiphysis of the distal phalanx of the thumb


Stippling of the epiphysis of the distal phalanx of the thumb


Contracture of the distal interphalangeal joint of the fingers


Pyramidal skinfold extending from the base to the top of the nails


Aplasia/Hypoplasia of the phalanges of the hand


Symphalangism affecting the phalanges of the hand


Abnormal distal phalanx morphology of finger


Abnormal proximal phalanx morphology of the hand


Aplasia/Hypoplasia of the distal phalanges of the hand


Bullet-shaped distal phalanges of the hand


Osteolytic defects of the distal phalanges of the hand


Aplasia/Hypoplasia of the middle phalanges of the hand


Bullet-shaped middle phalanges of the hand


Symphalangism affecting the proximal phalanges of the hand


Triangular shaped distal phalanges of the hand


Cerebellar ataxia associated with quadrupedal gait


Aplasia of the distal phalanges of the hand


Duplication of the distal phalanx of hand


Partial duplication of the distal phalanx of the 2nd finger


Complete duplication of the middle phalanx of the 3rd finger


Partial duplication of the distal phalanx of the 3rd finger


Partial duplication of the proximal phalanx of the 3rd finger


Duplication of the distal phalanx of the 5th finger


Partial duplication of the phalanx of hand


Complete duplication of the distal phalanges of the hand


Cone-shaped epiphysis of the 1st metacarpal


Aplasia/Hypoplasia of the 1st metacarpal


Abnormal morphology of the proximal phalanx of the hallux


Abnormality of the first metatarsal bone


Aplasia/Hypoplasia of the phalanges of the hallux


Symphalangism affecting the phalanges of the hallux


Aplasia/hypoplasia of the 1st metatarsal


Aplasia/Hypoplasia of the distal phalanx of the hallux


Bullet-shaped distal phalanx of the hallux


Duplication of the distal phalanx of the hallux


Duplication of the proximal phalanx of the hallux


Partial duplication of the distal phalanx of the hallux


Partial duplication of the phalanges of the hallux


Aplasia of the distal phalanx of the hallux


Aplasia/Hypoplasia of the phalanges of the toes


Osteolytic defects of the phalanges of the toes


Symphalangism affecting the phalanges of the toes


Abnormality of the distal phalanges of the toes


Aplasia/Hypoplasia of the distal phalanges of the toes


Aplasia/Hypoplasia of the middle phalanges of the toes


Absent epiphyses of the phalanges of the hand


Cone-shaped epiphyses of the phalanges of the hand


Enlarged epiphyses of the phalanges of the hand


Ivory epiphyses of the phalanges of the hand


Small epiphyses of the phalanges of the hand


Aplasia of the middle phalanx of the hand


Aplasia of the proximal phalanges of the hand


Cone-shaped epiphyses of the distal phalanges of the hand


Ivory epiphyses of the distal phalanges of the hand


Stippling of the epiphyses of the distal phalanges of the hand


Cone-shaped epiphyses of the middle phalanges of the hand


Pseudoepiphyses of the middle phalanges of the hand


Cone-shaped epiphyses of the proximal phalanges of the hand


Pseudoepiphyses of the proximal phalanges of the hand


Aplasia/Hypoplasia of the abdominal wall musculature


Aplasia/Hypoplasia of the phalanges of the 2nd toe


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Aplasia/Hypoplasia of the phalanges of the 4th toe


Aplasia/Hypoplasia of the phalanges of the 5th toe


Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


Abnormal circulating porphyrin concentration


Advanced pneumatization of cranial sinuses


Weakness due to upper motor neuron dysfunction


Elevated circulating 7-dehydrocholesterol concentration


Elevated circulating phytanic acid concentration


Abnormality of the epiphysis of the femoral head


Abnormality of the proximal tibial epiphysis


Abnormal metatarsal epiphysis morphology


Abnormality of the epiphyses of the feet


Elevated alkaline phosphatase of hepatic origin


Elevated alkaline phosphatase of bone origin


Aplasia of the distal phalanges of the toes


Patchy reduction of bone mineral density


Patchy variation in bone mineral density


Abnormality of the third metatarsal bone


Abnormal curvature of the vertebral column


Elevated tissue non-specific alkaline phosphatase


Abnormal circulating immunoglobulin concentration


Increased circulating immunoglobulin concentration


Advanced pneumatization of the mastoid process


Abnormality of the temporomandibular joint


Impaired visuospatial constructive cognition


Abnormality of the eleventh cranial nerve


Abnormality of the twelfth cranial nerve


Abnormal circulating copper concentration


Decreased circulating ceruloplasmin concentration


High nonceruloplasmin-bound serum copper


EEG with persistent abnormal rhythmic activity


EEG with spike-wave complexes (2.5-3.5 Hz)


EEG with periodic lateralized epileptiform discharges


EEG with hyperventilation-induced epileptiform discharges


Abnormal circulating protein concentration


Abnormal circulating glycine concentration


Abnormal circulating threonine concentration


Abnormal circulating methionine concentration


Abnormal circulating glutamine concentration


Abnormal circulating histidine concentration


Abnormal circulating arginine concentration


Abnormal circulating pyruvate family amino acid concentration


Abnormal circulating alanine concentration


Abnormal circulating tyrosine concentration


Abnormal circulating cysteine concentration


Abnormal circulating homocysteine concentration


Abnormal blood inorganic cation concentration


Absence of stomach bubble on fetal sonography


Abnormal circulating phytanic acid concentration


Abnormal circulating carnitine concentration


Absence of Lutheran antigen on erythrocytes


Abnormal cellular immune system morphology


Abnormality of the common coagulation pathway


Chromosomal breakage induced by ionizing radiation


Increased susceptibility to spontaneous sister chromatid exchange


Abnormal circulating polysaccharide concentration


Abnormal circulating carbohydrate concentration


Abnormality of mucopolysaccharide metabolism


Abnormal circulating enzyme concentration


Abnormal cardiovascular system physiology


Abnormal intrahepatic bile duct morphology


Abnormal circulating potassium concentration


Abnormal circulating adrenocorticotropin concentration


Abnormal left ventricular outflow tract morphology


Abnormal circulating cytokine concentration


Defective production of NFKB1-dependent cytokines


Abnormal circulating chemokine concentration


Abnormal circulating interferon concentration


Abnormal circulating interleukin concentration


Abnormality of tumor necrosis factor secretion


Increased sensitivity to ionizing radiation


Focal sensory seizure with auditory features


Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Focal sensory seizure with olfactory features


Focal sensory seizure with somatosensory features


Focal sensory seizure with visual features


Focal EEG discharges with secondary generalization


Uni- and bilateral multifocal epileptiform discharges


EEG with generalized epileptiform discharges


Elevated circulating C-reactive protein concentration


Abnormality of superior crus of antihelix


Underdeveloped superior crus of antihelix


Recurrent mycobacterium avium complex infections


Abnormality of the urinary system physiology


Abnormality of urine calcium concentration


Abnormality of urine catecholamine level


Abnormal morphology of the vestibule of the inner ear


Abnormality of the internal auditory canal


Abnormality of the dorsal column of the spinal cord


Abnormal umbilical cord blood vessel morphology


Childhood onset short-limb short stature


Moderate intrauterine growth retardation


Elevated maternal circulating alpha-fetoprotein concentration


High maternal circulating chorionic gonadotropin concentration


Functional abnormality of the middle ear


Abnormal small intestinal villus morphology


Childhood onset sensorineural hearing impairment


Profound sensorineural hearing impairment


Anterior synechiae of the anterior chamber


Posterior synechiae of the anterior chamber


Abnormal migration of corneal endothelium


Reduced number of corneal endothelial cells


Unbalanced atrioventricular canal defect


Short chordae tendineae of the mitral valve


Abnormal branching pattern of the aortic arch


Left aortic arch with cervical origin of the right subclavian artery


Left aortic arch with retroesophageal right subclavian artery


Left aortic arch with right descending aorta and right ductus arteriosus


Congenital malformation of the great arteries


Apical muscular ventricular septal defect


Multiple muscular ventricular septal defects


Partial diaphragmatic absence of pericardium


Anomalous origin of right coronary artery from the pulmonary artery


Patent ductus arteriosus after birth at term


Patent ductus arteriosus after premature birth


Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis


Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis


Anomalous origin of one pulmonary artery from ascending aorta


Anomalous origin of left pulmonary artery from ascending aorta


Left ventricular noncompaction cardiomyopathy


Bilateral superior vena cava with bridging vein


Bilateral superior vena cava with no bridging vein


Left superior vena cava draining directly to the left atrium


Left superior vena cava draining to coronary sinus


Interrupted inferior vena cava with azygous continuation


Tetralogy of Fallot with pulmonary stenosis


Single ventricle of indeterminate morphology


Perimembranous ventricular septal defect


Supraventricular tachycardia with an accessory connection mediated pathway


Abnormal electrophysiology of sinoatrial node origin


Supracardiac total anomalous pulmonary venous connection


Cardiac total anomalous pulmonary venous connection


Infracardiac total anomalous pulmonary venous connection


Mixed total anomalous pulmonary venous connection


Abnormality of circulating cortisol level


Adrenocorticotropin deficient adrenal insufficiency


Abnormal posterior pituitary morphogenesis


Thyrotoxicosis with toxic multinodular goiter


Thyrotoxicosis with toxic single thyroid nodule


Impaired sensitivity to thyroid stimulating hormone


Activating thyroid-stimulating hormone receptor defect


Abnormal appendicular skeleton morphology


Impaired arachidonic acid-induced platelet aggregation


Impaired ristocetin-induced platelet aggregation


Impaired thrombin-induced platelet aggregation


Acute disseminated intravascular coagulation


Impaired thromboxane A2 agonist-induced platelet aggregation


Abnormal metacarpophalangeal joint morphology


Abnormal activity of mitochondrial respiratory chain


Decreased activity of mitochondrial complex I


Decreased activity of mitochondrial complex III


Decreased activity of mitochondrial ATP synthase complex


Hypersegmentation of proximal phalanx of third finger


Abnormal superior cerebellar peduncle morphology


Recurrent acute respiratory tract infection


Unilateral hypoplasia of pectoralis major muscle


Abnormal circulating citrulline concentration


Elevated circulating luteinizing hormone level


Impaired neutrophil bactericidal activity


Decreased circulating calcifediol concentration


Urinary excretion of sialylated oligosaccharides


Increased urinary disaccharide excretion


Abnormal circulating acylcarnitine concentration


Ubiquitin-positive cerebral inclusion bodies


Abnormality of skeletal muscle fiber size


Abnormality of exocrine pancreas physiology


Abnormality of endocrine pancreas physiology


Abnormality of circulating catecholamine level


Abnormal circulating creatinine concentration


Abnormal circulating corticosterone level


Abnormal circulating creatine concentration


Abnormal circulating albumin concentration


Abnormality of bone marrow stromal cells


Abnormal erythroid lineage cell morphology


Abnormal granulocytopoietic cell morphology


Abnormal number of granulocyte precursors


Abnormality of multiple cell lineages in the bone marrow


Reduced quantity of Von Willebrand factor


Increased erythrocyte protoporphyrin concentration


Entrapment neuropathy of suprascapular nerve


Non-caseating epithelioid cell granulomatosis


Increased circulating chylomicron concentration


Increased intramyocellular lipid droplets


Dynein arm defect of respiratory motile cilia


Abnormal axonemal organization of respiratory motile cilia


Abnormal central microtubular pair morphology of respiratory motile cilia


Absent central microtubular pair morphology of respiratory motile cilia


Absent respiratory ciliary axoneme radial spokes


Increased carotid artery intimal medial thickness


Abnormal circulating serine concentration


Hypothalamic luteinizing hormone-releasing hormone deficiency


Coarctation of the descending aortic arch


Decreased circulating complement C9 concentration


Decreased circulating ferritin concentration


Decreased galactosylation of N-linked protein glycosylation


Decreased sialylation of O-linked protein glycosylation


Abnormal circulating enzyme concentration or activity


Reduced tissue carnitine O-palmitoyltransferase 2 activity


Abnormal circulating aldolase concentration


Abnormal urine alpha-ketoglutarate concentration


Increased urine alpha-ketoglutarate concentration


Decreased urine alpha-ketoglutarate concentration


Aplasia/Hypoplasia of the cerebral white matter


Delayed early-childhood social milestone development


Medial calcification of medium-sized arteries


Decreased specific pneumococcal antibody level


Abnormal brainstem white matter morphology


Extra-axial cerebrospinal fluid accumulation


Tetralogy of Fallot with pulmonary atresia


Elevated circulating aldolase concentration


Reduced circulating aldolase concentration


EEG with centrotemporal focal spike waves


Abnormal urinary electrolyte concentration


Abnormal suspensory ligament of lens morphology


Pigment deposition in the trabecular meshwork


Abnormal brain FDG positron emission tomography


Mildly reduced left ventricular ejection fraction


Reduced left ventricular ejection fraction


Moderately reduced left ventricular ejection fraction


Severely reduced left ventricular ejection fraction


Reduced brain N-acetyl aspartate level by MRS


Abnormal brain choline/creatine ratio by MRS


Abnormal gastrointestinal tract morphology


Functional abnormality of the gastrointestinal tract


Abnormal basal ganglia MRI signal intensity


Focal T2 hypointense basal ganglia lesion


Periventricular white matter hypodensities


Abnormal lower-limb motor evoked potentials


Anti-granulocyte-macrophage colony stimulating factor antibody positivity


Decreased proportion of regulatory T cells


Persistent human papillomavirus infection


Abnormal retinal nerve fiber layer morphology


Thickening of the tubular basement membrane


Blood pressure substantially higher in legs than arms


Blood pressure substantially higher in arms than legs


Reduced response to gonadotropin-releasing hormone stimulation test


Posterior predominant thick cortex pachygyria


Perisylvian predominant thick cortex pachygyria


Anterior predominant thick cortex pachygyria


Increased circulating 18-hydroxycortisone level


Decreased erythrocyte sedimentation rate


Abnormal enteric nervous system morphology


Elevated brain N-acetyl aspartate level by MRS


Abnormal cutaneous elastic fiber morphology


Abnormal large intestinal mucosa morphology


Abnormal small intestinal mucosa morphology


Decreased small intestinal mucosa lactase level


Abnormal hepatobiliary system physiology


Increased number of elastic fibers in the dermis


Irregular septal thickening on pulmonary HRCT


Centrilobular ground-glass opacification on pulmonary HRCT


Bilateral tonic-clonic seizure with generalized onset


Abnormal circulating apolipoprotein concentration


Subretinal pigment epithelium hemorrhage


Anti-glutamic acid decarboxylase antibody positivity


Increased circulating beta-2-microglobulin level


Decreased circulating beta-2-microglobulin level


Anti-thyroid peroxidase antibody positivity


Increased circulating androstenedione concentration


Pulmonary interstitial high-resolution computed tomography abnormality


Reticulonodular pattern on pulmonary HRCT


Combined cystic and ground-glass pattern on pulmonary HRCT


Decreased lecithin cholesterol acyl transferase level


Increased circulating lactate dehydrogenase concentration


Decreased CSF 5-hydroxyindolacetic acid concentration


Increased reactive oxygen species production


Abnormal circulating thyroglobulin concentration


Increased circulating thyroglobulin concentration


Abnormal morphology of the chordae tendinae of the mitral valve


Decreased mean corpuscular hemoglobin concentration


Increased mean corpuscular hemoglobin concentration


Elevated circulating ribitol concentration


Periorbital ecchymosis with tarsal plate sparing


Abnormal morphology of the choroidal vasculature


Decreased CD4+ effector memory T cell proportion


Compound muscle action potential amplitude facilitation


Skeletal muscle autophagosome accumulation


Elevated urinary 5-hydroxyhexanoic acid level


Unilateral sensorineural hearing impairment


Decreased PHA-induced T-cell proliferation


EMG: repetitive nerve stimulation abnormality


Glomerular basement membrane lamellation


Peripheral primitive neuroectodermal neoplasm


Punctate periventricular T2 hyperintense foci


Abnormal circulating testosterone concentration


Abnormal muscle fiber protein expression


Impaired ristocetin cofactor assay activity


Prolonged bleeding following circumcision


Excessive bleeding from superficial cuts


Abnormality of peripheral nervous system electrophysiology


Abnormality of central nervous system electrophysiology


Abnormal peripheral action potential amplitude


Impaired visually enhanced vestibulo-ocular reflex


Abnormal peripheral nervous system synaptic transmission


Fatigable weakness of swallowing muscles


Fatigable weakness of respiratory muscles


Fatigable weakness of distal limb muscles


Fatiguable weakness of proximal limb muscles


Favorable response of weakness to acetylcholine esterase inhibitors


Unfavorable response of muscle weakness to acetylcholine esterase inhibitors


Anti-neuromuscular Junction acetylcholine receptor antibody positivity


Anti-muscle-specific tyrosine kinase antibody


Glycogen accumulation in muscle fiber lysosomes


Calcification of the interosseus membrane of the forearm


Increased circulating insulin-like growth factor 1 concentration


Elevated red cell adenosine deaminase activity


Reduced erythrocyte 2,3-diphosphoglycerate concentration


Abnormal erythrocyte enzyme concentration or activity


Reduced red cell adenosine deaminase level


Partial absence of the septum pellucidum


Abnormal distal femoral metaphysis morphology


Multinucleated giant chondrocytes in epiphyseal cartilage


Abnormal circulating gonadotropin concentration


Decreased circulating gonadotropin concentration


Decreased circulating follicle stimulating hormone concentration


Decreased circulating luteinizing hormone level


Abnormal circulating luteinizing hormone concentration


Abnormal circulating follicle-stimulating hormone concentration


Increased circulating androgen concentration


Decreased circulating androgen concentration


Abnormal serum insulin-like growth factor 1 level


Decreased serum insulin-like growth factor 1


Abnormal circulating interferon-gamma concentration


Increased circulating interferon-gamma concentration


Abnormal circulating eicosanoid concentration


Decreased transitional B cell proportion


Increased transitional B cell proportion


Decreased proportion of marginal zone B cells


Abnormal class-switched memory B cell proportion


Decreased class-switched memory B cell proportion


Reduced circulating leukotriene C4 concentration


Abnormality of pattern visual evoked potentials


Abnormal light-adapted flicker electroretinogram


Abnormal amplitude of light-adapted flicker electroretinogram


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave


Abnormal amplitude of pattern electroretinogram


Abnormal timing of pattern electroretinogram


Abnormal central response of multifocal electroretinogram


Difficulty adjusting to changes in luminance


Abnormal best corrected visual acuity test


Visual acuity light perception with projection


Abnormal static automated perimetry test


Abnormal fundus autofluorescence imaging


Photoreceptor outer segment loss on macular OCT


Abnormal retinal morphology on macular OCT


Abnormal foveal morphology on macular OCT


Foveal photoreceptor outer segment loss on macular OCT


Foveal hyporeflective spaces on macular OCT


Perifoveal ring of hyperautofluorescence


Congenital stationary night blindness with normal fundus


Congenital stationary night blindness with abnormal fundus


Abnormal cardiovascular system morphology


Glial remnants anterior to the optic disc


Hyaloid vascular remnant and retrolental mass


Increased circulating free fatty acid level


Increased circulating interleukin 6 concentration


Abnormal circulating C-peptide concentration


Reduced volume of central subdivision of bed nucleus of stria terminalis


Anti-topoisomerase I antibody positivity


Increased pulmonary capillary wedge pressure


Abnormality on pulmonary function testing


Hyperintensity of cerebral white matter on MRI


Periventricular white matter hyperintensities


Deep cerebral white matter hyperintensities


Liver kidney microsome type 1 antibody positivity


Anti-liver cytosolic antigen type 1 antibody positivity


Exaggerated rugosity of the labia majora


Abnormal morphology of the great vessels


Elevated circulating carcinoembryonic antigen concentration


Elevated vascular endothelial growth factor level


Impairment of activities of daily living


Abnormal response to ACTH stimulation test


Impaired cortisol response to insulin stimulation test


Abnormal response to corticotropin releasing hormone stimulation test


Impaired cortisol response to corticotropin releasing hormone stimulation test


Impaired growth-hormone response to insulin stimulation test


Abnormal response to glucagon stimulation test


Impaired growth-hormone response to glucagon stimulation test


Abnormal response to human chorionic gonadotrophin stimulation test


Excessive insulin response to glucagon test


Decreased circulating prealbumin concentration


Abnormal thyroid-stimulating hormone level


Decreased thyroid-stimulating hormone level


Decreased circulating inhibin B concentration


Increased circulating antimullerian hormone concentration


Decreased circulating antimullerian hormone circulation


Impaired collagen-related peptide-induced platelet aggregation


Abnormal circulating B-type natriuretic peptide concentration


Starry sky appearance on hepatic sonography


Increased circulating NT-proBNP concentration


Abnormal circulating pregnenolone concentration


Superficial dermal perivascular inflammatory infiltrate


Deep dermal perivascular inflammatory infiltrate


Abnormal morphology of right ventricular trabeculae


Increased pituitary glycoprotein hormone alpha subunit level


Decreased circulating lipoprotein lipase concentration


Elevated circulating 17-hydroxyprogesterone concentration


Decreased circulating dehydroepiandrosterone concentration


Decreased circulating dehydroepiandrosterone-sulfate concentration


Abnormal radioactive iodine uptake test result


Predominantly dermal neutrophilic infiltrate


Internally nucleated skeletal muscle fibers


Anomalous origin of left subclavian artery


Abnormal glomerular visceral epithelial cell morphology


Decreased CD69 upregulation upon TCR activation


Abnormal ventricular myocardium morphology


Fatty replacement of ventricular myocardial tissue


Monoclonal light chain cardiac amyloidosis


Dextrotransposition of the great arteries


Decreased mitogen-induced T-cell proliferation


Decreased anti-CD3/28-induced T-cell proliferation


Decreased double-negative T cell proportion


Reduced antigen-specific T cell proliferation


Increased proportion of CD25+ mast cells


Abnormal circulating beta-C-terminal telopeptide concentration


Increased circulating beta-C-terminal telopeptide concentration


Restricted or repetitive behaviors or interests


Abnormal tricuspid valve annulus morphology


Abnormal tricuspid chordae tendinae morphology


Abnormal tricuspid valve leaflet morphology


Status epilepticus without prominent motor symptoms


Reduced contraction of the left ventricular apex


Continuous spike and waves during slow sleep


Abnormal circulating thyroid hormone concentration


Abnormal cutaneous collagen fibril morphology


Increased proportion of exhausted T cells


Increased theta frequency activity in EEG


Abnormal dermoepidermal junction morphology


Linear IgA deposits along the epidermal basement membrane zone


Linear IgG deposits along the epidermal basement membrane zone


Linear C3 deposits along the epidermal basement membrane zone


Elevated circulating palmitoleylcarnitine concentration


Abnormally low T cell receptor excision circle level


Abnormal pulmonary valve cusp morphology


Anomalous origin of the right subclavian artery from the descending aorta


Anomalous origin of the left common carotid artery from the main pulmonary artery


Anomalous origin of the left common carotid artery from the brachiocephalic artery


Fusiform ascending tubular aorta aneurysm


Abnormal atrioventricular valve physiology


Systolic anterior motion of the mitral valve


Fixed splitting of the second heart sound


Paradoxical splitting of the second heart sound


Increased stool alpha1-antitrypsin concentration


Abnormally loud pulmonic component of the second heart sound


Elevated circulating apolipoprotein B concentration


Decreased circulating apolipoprotein A-I concentration


Elevated circulating apolipoprotein A-II concentration


Decreased circulating parathyroid hormone level


Decreased circulating hepcidin concentration


Elevated circulating hepcidin concentration


Abnormal circulating selenium concentration


Increased total hemolytic complement activity


Juvenile type ovarian granulosa cell tumor


Conus terminalis arteriovenous malformation


Elevated circulating N,N-dimethylglycine concentration


Elevated urinary N,N-dimethylglycine level


Recurrent bacterial upper respiratory tract infections


Elevated circulating aspartate aminotransferase concentration


Elevated circulating alanine aminotransferase concentration


Abnormal pulmonary thoracic imaging finding


Reduced circulating alpha-1-antitrypsin concentration


Mild malformation of cortical development


Severely increased total eosinophil count


Decreased serum bicarbonate concentration


Elevated serum bicarbonate concentration


Left ventricular outflow tract obstruction


Increased circulating surfactant protein level


Decreased unswitched memory B cell proportion


Mycobacterium abscessus abscessus infection


Decreased circulating total IgG concentration


Decreased circulating IgG1 concentration


Decreased circulating IgG3 concentration


Decreased circulating IgG4 concentration


Decreased specific antibody response to vaccination


Abnormal circulating metabolite concentration


Cellular hypersensitivity to mitomycin C


Chronic active Epstein-Barr virus infection


Increased urinary type 1 collagen N-terminal telopeptide level


Abnormal circulating free T3 concentration


Lymphocytic infiltration of the colorectal mucosa


Decreased proportion of CD4-positive T cells


Increased proportion of CD4-positive T cells


Perinuclear antineutrophil antibody positivity


Cytoplasmic antineutrophil antibody positivity


Increased circulating creatine kinase MB isoform


Increased circulating creatine kinase MM isoform


Increased circulating metamyelocyte count


Increased circulating copper concentration


Nontuberculous mycobacterial pulmonary infection


CSF anti-NMDA receptor antibody positivity


Increased circulating N-acetylaspartic acid concentration


Increased CSF N-acetylaspartic acid concentration


Disseminated nontuberculous mycobacterial infection


Ultra-low vision with retained motion projection


Ultra-low vision with retained light projection


Ultra-low vision with retained light perception


Ultra-low vision with no light perception


Increased circulating procalcitonin concentration


Increased urinary 11-deoxycorticosterone level


Increased circulating specific IgE antibody concentration


Reduced forced expiratory volume in one second


Increased circulating corticosterone level


Anti-beta 2 glycoprotein I antibody positivity


Abnormal circulating transferrin concentration


Elevated circulating transferrin concentration


Reduced circulating transferrin concentration


Posterior predominant subcortical band heterotopia


Abnormal circulating C-reactive protein concentration


Reduced circulating C-reactive protein concecntration


Abnormal dermoepidermal hemidesmosome morphology


Decreased phosphoribosylpyrophosphate synthetase level


Anti-asialoglycoprotein receptor antibody positivity


Increased circulating argininosuccinic acid


Anti-myelin oligodendrocyte glycoprotein antibody positivity


Decreased tissue succinic semialdehyde dehydrogenase activity


Elevated CSF gamma-aminobutyric acid concentration


Elevated CSF 4-hydroxybutyric acid concentration


Persistent asymmetrical tonic neck reflex


Abnormal diffusion weighted cerebral MRI morphology


Renal interstitial immunoglobulin deposits


Generalized convulsive status epilepticus


Non-convulsive status epilepticus without coma


Focal aware cognitive seizure with forced thinking


Focal impaired awareness emotional seizure with fear/anxiety/panic


Focal impaired awareness autonomic seizure


Focal sensory seizure with vestibular features


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Focal impaired awareness hemiclonic seizure


Focal sensory seizure with cephalic sensation


Neonatal electro-clinical seizure with behavior arrest


Generalized non-convulsive status epilepticus without coma


Focal aware sensory seizure with auditory features


Seizure precipitated by febrile infection


Febrile seizure outside the age of 3 months to 6 years


Focal impaired awareness automatism seizure


Elevated bronchoalveolar lavage fluid lymphocyte proportion


Elevated bronchoalveolar lavage fluid neutrophil proportion


Hemosiderin-laden macrophages in bronchoalveolar fluid


Absent bronchoalveolar surfactant-protein C


Absent bronchoalveolar dimeric surfactant-protein B


Elevated bronchoalveolar lavage fluid eosinophil proportion


Anti-U1 ribonucleoprotein antibody positivity


Anti-glomerular basement membrane-antibody positivity


Anti-citrullinated protein antibody positivity


Substantia nigra hypointensity on susceptibility-weighted imaging


Globus pallidus hypointensity on susceptibility-weighted imaging


Decreased circulating complement C7 concentration


Decreased circulating complement C6 concentration


Decreased circulating complement C5 concentration


Inappropriately normal thyroid-stimulating hormone level


Abnormal circulating free T4 concentration


Increased circulating free T4 concentration


Decreased circulating free T4 concentration


Reduced TSH response to thyrotrophin-releasing hormone stimulation test


Increased circulating farnesol concentration


Elevated circulating D-dimer concentration


Abnormality of the musculoskeletal system


Elevated circulating uracil concentration


Abnormal circulating ceruloplasmin concentration


Elevated circulating methylsuccinic acid concentration


Increased circulating isovaleric acid concentration


Elevated circulating deoxypyridinoline concentration


Elevated circulating L-alloisoleucine concentration


Reduced respiratory ciliary beating frequency


Recurrent viral upper respiratory tract infections


Elevated circulating suberic acid concentration


Increased circulating interleukin 8 concentration


Decreased circulating selenium concentration


Increased circulating interleukin 10 concentration


Focal substantia nigra T2 hyperintensity


Reduced circulating interferon gamma concentration


Reduced CD95-induced lymphocyte apoptosis


Abnormal glomerular basement membrane morphology


Elevated circulating sebacic acid concentration


Elevated circulating amyloid A concentration


Abnormal preimplantation embryonic development


Increased circulating inosine concentration


Increased circulating guanosine concentration


Elevated circulating sitosterol concentration


Decreased compound muscle action potential amplitude


Anti-carbonic anhydrase II antibody positivity


Elevated circulating 2-hydroxybutyric acid concentration


Pulmonary arterial hypertension with lack of acute response to NO challenge


Elevated circulating myoglobin concentration


Elevated circulating glutarylcarnitine concentration


Elevated circulating propionylcarnitine concentration


Elevated circulating dodecanoylcarnitine concentration


Elevated circulating butyrylcarnitine concentration


Elevated circulating isovalerylcarnitine concentration


Elevated circulating tetradecanoylcarnitine concentration


Abnormal circulating lipoprotein lipase concentration


Increased circulating lipoprotein lipase concentration


Abnormal circulating bilirubin concentration


Glomerular basement membrane electron dense deposits


Elevated circulating fumarate concentration


Absent sperm axoneme central pair complex


Increased circulating brain natriuretic peptide concentration


Anti-tissue transglutaminase antibody positivity


Anti-epidermal transglutaminase antibody positivity


Decreased growth hormone responses to growth hormone-releasing hormone challenge


Absent peripheral lymph nodes in presence of infection


Pulmonary interstitial lymphocyte infiltration


Elevated circulating globotriaosylceramide concentration


Elevated urinary 3-methylcrotonylglycine level


Decreased mucosal sucrase-isomaltase activity


Glomerular subepithelial immune-complex deposits


Bone marrow arrest at the promyelocytic stage


Increased circulating very long-chain fatty acid concentration


Elevated circulating erythropoietin concentration


Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Anti-signal recognition particle antibody positivity


EEG with frontal epileptiform discharges


EEG with temporal epileptiform discharges


EEG with parietal epileptiform discharges


EEG with occipital epileptiform discharges


Increased left ventricular end-diastolic volume


Impaired renal tubular reabsorption of magnesium


Increased circulating 17 hydroxypregnenolone concentration


Decreased circulating dihydrotestosterone concentration


Decreased circulating androstenedione concentration


Elevated circulating soluble CD25 concentration


Multilamellation of medullary peritubular capillary basement membranes


Decreased circulating apolipoprotein C-II concentration


Microvillar PAS-positive secretory granules


Anti-phospholipase A2 receptor antibody positivity


Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio


Increased megakaryocyte colony forming unit count


Elevated circulating saccharopine concentration


Decreased circulating chenodeoxycholic acid concentration


Hypoplastic anterior limbs of the internal capsule


Anti-side-chain cleavage enzyme antibody positivity


Anti-steroid 17alpha-hydroxylase antibody positivity


Anti-islet antigen-2 antibody positivity


Anti-salivary protein antibody positivity


Anti-carbonic anhydrase VI antibody positivity


Anti-parotid secretory protein antibody positivity


Decreased circulating apolipoprotein B concentration


Anti-complement component C1q antibody positivity


Anti-centromere protein A antibody positivity


Anti-centromere protein B antibody positivity


Anti-nucleolus-organizing region antibody positivity


Anti-phosphatidyl ethanolamine antibody positivity


Anti-platelet derived growth factor receptor


Anti-cyclic citrullinated peptide antibody positivity


Anti-angiotensin receptor type-1 antibody positivity


Anti-endothelin-1 type A receptor antibody positivity


Anti-phosphatidic acid antibody positivity


Anti-phosphatidyl choline antibody positivity


Anti-phosphatidyl glycerol antibody positivity


Anti-phosphatidyl inositol antibody positivity


Anti-phosphatidyl serine antibody positivity


Anti-neutrophil elastase antibody positivity


Anti-transcription intermediary factor-1gamma antibody positivity


Anti-Y-box protein-1 antibody positivity


Anti-Gerbich phenotype 1 antibody positivity


Anti-Kelch like protein 12 antibody positivity


Anti-angiotensin-converting enzyme 2 antibody positivity


Anti-neurofascin 186 antibody positivity


Anti-contactin-associated protein 1 antibody positivity


Anti-SUMO-activating enzyme antibody positivity


Anti-SUMO-activating enzyme subunit 1 antibody positivity


Anti-SUMO-activating enzyme subunit 2 antibody positivity


Anti-nuclear matrix protein-2 antibody positivity


Anti-threonyl-tRNA synthetase antibody positivity


Anti-alanyl-tRNA synthetase antibody positivity


Anti-glycyl tRNA-synthetase antibody positivity


Anti-aminoacyl-tRNA synthetase antibody positivity


Anti-isoleucyl tRNA-synthetase antibody positivity


Anti-phenylalanyl tRNA synthetase antibody positivity


Anti-tyrosyl-tRNA synthetase antibody positivity


Anti-asparaginyl-tRNA synthetase antibody positivity


Anti-histidyl tRNA synthetase antibody positivity


Anti-beta-2-Glycoprotein I IgG antibody positivity


Anti-beta-2-Glycoprotein I IgM antibody positivity


Reduced circulating interleukin 10 concentration


Reduced circulating interleukin 21 concentration


Reduced circulating interleukin 22 concentration


Reduced circulating interleukin 23 concentration


Reduced circulating interleukin 27 concentration


Reduced circulating interleukin 17A concentration


Increased insulin like growth factor binding protein acid labile subunit concentration


Anti-thyroid-stimulating hormone receptor antibody positivity


Increased CSF homovanillic acid concentration


Decreased circulating C1-esterase inhibitor concentration


Abnormal fetal gastrointestinal system morphology


Sonographic non-visualized fetal bladder


Elevated circulating thymidine concentration


Elevated circulating deoxyuridine concentration


Increased fecal protoporphyrin concentration


Elevated circulating reverse T3 concentration


Elevated circulating tiglylglycine concentration


Elevated circulating creatine concentration


Elevated circulating tetracosanoic acid concentration


Elevated circulating hexacosanoic acid concentration


Decreased acid sphingomyelinase activity


Elevated left ventricular end-diastolic diameter


Hyperdynamic left ventricular ejection fraction


Thinning of the substantia nigra pars compacta


CNS vasculitis with reactivation of varicella-zoster virus


Muscle fiber intracytoplasmic reducing inclusion bodies


Elevated circulating guanidinoacetic acid concentration


Reduced tissue galactocerebrosidase activity


Reduced circulating growth hormone concentration


Posterior corneal stroma punctiform multicolored opacities


Increased circulating hypoxanthine concentration


Impaired renal tubular reabsorption of phosphate


Fibrofatty replacement of right ventricular myocardium


Elevated circulating alpha-aminoadipic semialdehyde concentration


Decreased circulating beta-mannosidase activity


Decreased level of coenzyme Q10 in skeletal muscle


Reduced circulating prekallikrein concentration


Elevated circulating biliverdin concentration


Elevated circulating insulin:C-peptide ratio


Reduced left ventricular endsystolic diameter


Circumferential skin creases on extremities


Increased circulating interleukin 18 concentration


Increased phytanic acid:pristanic acid ratio


Elevated urinary phenylpyruvic acid level


Increased fecal coproporphyrin III:coproporphyrin I ratio


Increased circulating Interferon-alpha concentration


Reduced muscle myoadenylate deaminase activity


Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level


Aplasia of posterior communicating artery


Increased circulating dehydroepiandrosterone-sulfate concentration


Decreased circulating thyroxine-binding globulin concentration


Elevated circulating dihydrouracil concentration


Elevated circulating N-carbamoyl-beta-alanine concentration


Muscle fiber granulofilamentous inclusion bodies


Elevated urine N-acetylaspartic acid level


Elevated urine 3-hydroxypropionic acid level


Elevated urine 2-methylcitric acid level


Reduced peroxisomal glutaryl-CoA oxidase activity


Reduced 3-phosphoglycerate dehydrogenase activity


Reduced hepatic D-glycerate kinase activity


Decreased circulating alpha-mannosidase activity


Hepatic melanin-like lysosomal pigmentation


Reduced uroporphyrinogen decarboxylase activity


Elevated circulating pristanic acid concentration


Reduced circulating alpha-L-fucosidase activity


Elevated circulating S-adenosyl-L-homocysteine concentration


Elevated circulating S-adenosyl-L-methionine concentration


Elevated CSF argininosuccinic acid concentration


Elevated urinary formiminoglutamic acid level


Reduced epidermal extracellular matrix protein 1 protein expression


Muscle fiber polyglucosan inclusion bodies


Accumulation of lipid droplets in small-bowel enterocytes


Reduced hepatic fructose-1,6-phosphate aldolase activity


Cleavage at junction of stratum corneum and stratum granulosum


Reduced tissue beta-glucuronidase activity


Reduced leukocyte arylsulfatase B activity


Reduced leukocyte arylsulfatase A activity


Decreased alpha-galactosidase A activity


Elevated circulating uroporphyrin concentration


Reduced muscle 2,4-dienoyl-CoA reductase activity


Reduced liver 2,4-dienoyl-CoA reductase activity


Decreased circulating acid maltase activity


Elevated circulating lathosterol concentration


Elevated circulating desmosterol concentration


Muscle fiber calsequestrin 1-containing inclusion bodies


Altered location of the longitudinal column in the fibrous sheath


Reduced tissue fructose-1,6-bisphosphatase activity


Reduced hepatic alanine-glyoxylate aminotransferase activity


Elevated circulating methylmalonylcarnitine concentration


Abnormality of the second metatarsal bone


Abnormality of the fourth metatarsal bone


Abnormal circulating creatine kinase concentration


Abnormal circulating renin concentration


Abnormal circulating aldosterone concentration


Abnormal total natural killer cell count


Abnormal lateral semicircular canal morphology


Unilateral conductive hearing impairment


Abnormal circulating vitamin B12 concentration


Abnormal motor nerve conduction velocity


Abnormal sensory nerve conduction velocity


Abnormal circulating ferritin concentration


Decreased serum testosterone concentration


Increased level of platelet-activating factor


Abnormal circulating neopterin concentration


Abnormal circulating biopterin concentration


Abnormal circulating insulin concentration


Decreased level of histidine-rich glycoprotein


Decreased level of tissue plasminogen activator


Reduced plasminogen activator inhibitor 1 activity


Reduced plasminogen activator inhibitor 1 antigen


Hyperintensity of MRI T2 signal of the spinal cord


Decreased circulating free fatty acid level


Decreased circulating iron concentration


Abnormal morphology of the olfactory bulb


Focal hyperintensity of cerebral white matter on MRI


Multifocal hyperintensity of cerebral white matter on MRI


Confluent hyperintensity of cerebral white matter on MRI


Focal hypointensity of cerebral white matter on MRI


Abnormal urinary nitrogen compound level


Decreased expression of GPI-anchored proteins on the cell surface


Chronic partially decreased circulating IgG1


Abnormal peripheral nerve morphology by anatomical site


Osteolysis involving bones of the upper limbs


Abnormal circulating lactate dehydrogenase concentration


Decreased circulating complement C4 concentration


Elevated circulating acylcarnitine concentration


Abnormality of the brachial nerve plexus


Abnormal circulating alpha-fetoprotein concentration


Decreased circulating alpha-fetoprotein concentration


Aplasia/hypoplasia involving bones of the extremities


Synostosis involving bones of the upper limbs


Abnormality of the medullary cavity of the long bones


Stenosis of the medullary cavity of the long bones


EMG: continuous motor unit activity at rest


EMG: impaired neuromuscular transmission


Abnormality of peripheral somatosensory evoked potentials


Delayed somatosensory central conduction time


Muscle fiber cytoplasmatic inclusion bodies


Muscle fiber intranuclear inclusion bodies


Contracture of the proximal interphalangeal joint of the 2nd toe


Contracture of the proximal interphalangeal joint of the 3rd toe


Contracture of the proximal interphalangeal joint of the 4th toe


Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Aplasia of the distal phalanx of the 4th toe


Aplasia of the distal phalanx of the 5th toe


Aplasia of the middle phalanx of the 4th toe


Aplasia of the middle phalanges of the toes


Duplication of the distal phalanx of the 3rd toe


Osteolytic defects of the middle phalanx of the 4th toe


Proximal/middle symphalangism of 4th toe


Proximal/middle symphalangism of 5th toe


Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Decreased circulating vitamin B1 concentration


Decreased circulating vitamin E concentration


Abnormal circulating vitamin E concentration


Abnormal circulating calcium-phosphate regulating hormone concentration


Abnormal pigmentation of the oral mucosa


Malignant neoplasm of the central nervous system


Respiratory insufficiency due to defective ciliary clearance


Recurrent upper and lower respiratory tract infections


Chronic hepatitis due to cryptosporidium infection


Abnormal liver function tests during pregnancy


Increased serum bile acid concentration during pregnancy


Abnormality of the peripheral nervous system


Decreased level of 1,5 anhydroglucitol in serum


Increased level of 3-hydroxy-3-methylglutaric acid in urine


Elevated circulating gamma-aminobutyric acid concentration


Decreased circulating GABA concentration


Increased level of galactonate in red blood cells


Increased level of galactitol in red blood cells


Increased level of hippuric acid in urine


Increased level of propylene glycol in blood


Increased level of L-pyroglutamic acid in urine


Decreased circulating biotinidase concentration


Eosinophilic infiltration of the esophagus


Eosinophilic microabscess formation in the esophagus


Increased level of methylsuccinic acid in urine


Increased level of N-acetylneuraminic acid in urine


Increased circulating troponin I concentration


Increased circulating troponin T concentration


Decreased glucose-6-phosphate dehydrogenase level in blood


Abnormal blood 5-methyltetrahydrofolate level


Hypoplasia of mandible relative to maxilla


Increased anti-food allergen IgE antibody level


Increased anti-parasite IgE antibody level


Persistently decreased total neutrophil count


Transiently decreased total neutrophil count


Abnormal circulating amylase concentration


Decreased specific antibody response to protein vaccine


Complete or near-complete absence of specific antibody response to tetanus vaccine


Partial absence of specific antibody response to tetanus vaccine


Decreased specific antibody response to polysaccharide vaccine


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine


Partial absence of specific antibody response to unconjugated pneumococcus vaccine


Decreased specific antibody response to protein-conjugated polysaccharide vaccine


Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


Increased urinary galactosylated oligosaccharide


Decreased O-mannosyl glycans on alpha-dystroglycan


Increased hepatitis B virus antibody level


Abnormal naive CD4-positive T cell proportion


Decreased naive CD4-positive T cell proportion


Abnormal central memory CD8+ T cell proportion


Decreased proportion of CD4-positive memory T cells


Decreased proportion of central memory CD4-positive T cells


Decreased central memory CD8+ T cell proportion


Increased proportion of effector memory CD4-positive T cells


Increased effector memory CD8+ T cell proportion


Abnormal morphology of musculature of pharynx


Abnormal common carotid artery morphology


Increased circulating beta-carotene concentration


Positive Mycobacterium avium sputum culture


Abnormal gonadotropin-releasing hormone concentration


Abnormal circulating dehydroepiandrosterone concentration


Increased stool urobilinogen concentration


Abnormal concentration of acylcarnitine in the urine


Increased CSF phenylalanine concentration


Abnormal CSF pyruvate family amino acid concentration


Abnormal urine sebacic acid concentration


Increased level of gamma-aminobutyric acid in urine


Abnormal external ear cartilage morphology


Abnormal morphology of bony orbit of skull


Abnormal nasopharyngeal adenoid morphology


Abnormal glossopharyngeal nerve morphology


Abnormal internal carotid artery morphology


Abnormal mandible condylar process morphology


Formation of multiple pronuclei during fertilization


Impaired renal tubular reabsorption of bicarbonate


Reduced mucosal-associated invariant T cell proportion


Use of another person's body to communicate


Elevated circulating thymine concentration


Abnormal four chamber view of the fetal heart


Reduced phytanic acid oxidase activity in cultured fibroblasts


Decreased circulating plasmalogen concentration


Post-vaccination varicella zoster virus infection


Anti-platelet antigen antibody positivity


Anti-voltage-gated potassium channel antibody positivity


Reduced erythrocyte adenosine triphosphate concentration


Reduced leukocyte alpha-mannosidase activity


Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity


Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts


Reduced erythrocyte porphobilinogen deaminase activity


Reduced holocarboxylase synthetase activity in cultured fibroblasts


Reduced tissue alpha-N-acetylgalactosaminidase activity


Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts


Reduced tissue beta-mannosidase activity


Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts


Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts


Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity


Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts


Reduced glycerol kinase activity in cultured fibroblasts


Linear Hyperpigmentation along Blaschko's lines


Elevated circulating vitamin B12 concentration


Elevated circulating soluble FASL concentration


Decreased circulating thrombopoietin concentration


Oil-drop brown pigmentation of the corneal limbus


Reduced circulating aromatic L-amino acid decarboxylase activity


Thinning of outer muscular layer of small bowel


Reduced hepatic beta-ureidopropionase activity


Reduced hepatic dihydropyrimidinase activity


Reduced muscle alpha-1,4-glucosidase activity


Hyperpolarized transepithelial nasal potential difference


Increased urinary N-acetylglucosamine-rich oligosaccharide level


Positive 2,4-dinitrophenylhydrazine urine test


Elevated urinary creatine/creatinine ratio


Reduced erythrocyte gamma-glutamyl cysteine synthetase activity


Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity


Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts


Elevated methylhex-dienedioic level by MRS


Unesterified cholesterol accumulation in cultured fibroblasts


Reduced hepatic N-acetylglutamate synthase activity


Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio


Reduced muscle phosphorylase kinase activity


Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts


Reduced hepatic glucose-6-phosphate translocase activity


Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration


Elevated CSF N-carbamyl-beta-alanine concentration


Elevated CSF dihydrouracil concentration


Elevated circulating Angiotensin-converting enzyme concentration


Reduced HMG-CoA lyase activity in cultured fibroblasts


Reduced circulating acyl-CoA oxidase activity


Reduced circulating xanthine oxidase activity


Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts


Elevated circulating dihydroxyphenylacetic acid concentration


Elevated circulating tumor necrosis factor alpha concentration


Reduced circulating pyrimidine 5-prime-nucleotidase activity


Reduced circulating cortisol-binding globulin concentration


Decreased circulating thyroglobulin concentration


Elevated CSF D-2-hydroxyglutaric acid concentration


Absent circulating immunoglobulin kappa chain


Elevated urinary 3-hydroxykynurenine level


Elevated circulating pipecolic acid concentration


Elevated urinary gamma-glutamylphenylalanine level


Failure to elevate ammonia on ischemic exercise


Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine


Elevated urinary indoleacetic acid level


Reduced hepatic phosphorylase kinase activity


Reduced hepatic ornithine transcarbamylase activity


Anti-intrinsic factor antibody positivity


Reduced tissue argininosuccinate synthetase activity


Reduced aspartoacylase activity in cultured fibroblasts


Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts


Reduced tissue medium-chain acyl-CoA dehydrogenase activity


Reduced cystathionine beta-synthase activity in cultured fibroblasts


Reduced muscle glycogen phosphorylase activity


Reduced muscle 6-phosphofructokinase activity


Reduced tissue alpha-N-acetylglucosaminidase activity


Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts


Central thinning of the outer nuclear layer of the retina


Elevated circulating D-glyceric acid concentration


Elevated CSF D-glyceric acid concentration


Increased circulating interleukin 1beta concentration


Reduced neutrophil myeloperoxidase activity


Elevated urinary succinylaminoimidazole carboxamide riboside level


Elevated urine trihydroxycholestanoic acid level


Elevated CSF guanidinoacetic acid concentration


Elevated circulating fibroblast growth factor 23 concentration


Elevated circulating proinsulin concentration


Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts


Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts


Reduced tissue acetyl-CoA carboxylase activity


Decreased CSF asialotransferrin to transferrin ratio


Elevated urine 3-methyladipic acid level


Elevated CSF alpha-ketoglutarate concentration


Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level


Elevated circulating tetradecenoylcarnitine concentration


Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration


Decreased circulating catecholamine concentration


Elevated brain guanidinoacetate level by MRS


Abnormal circulating fibroblast growth factor 23 concentration


Elevated circulating calprotectin concentration


Elevated CSF L-2-hydroxyglutaric acid concentration


Elevated erythrocyte inosine triphosphate concentration


Reduced erythrocyte inosine triphosphatase activity


Diminished neutrophil myeloperoxidase activity


Reduced erythrocyte uroporphyrinogen III cosynthase activity


Elevated circulating 21-deoxycortisol concentration


Reduced erythrocyte glutathione reductase activity


Failure to elevate lactate upon ischemic exercise test


Elevated urinary ureidopropionic acid level


Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity


Reduced circulating dopamine beta-hydroxylase activity


Reduced erythrocyte bisphosphoglycerate mutase activity


Reduced erythrocyte adenylate kinase activity


Decreased circulating carboxypeptidase N activity


Reduced circulating adenosine deaminase-2 activity


Reduced sepiapterin reductase activity in cultured fibroblasts


Reduced tissue thymidine phosphorylase activity


Reduced tissue tripeptidyl peptidase 1 activity


Reduced tissue arginine:glycine amidinotransferase activity


Reduced tissue aspartylglucosaminidase activity


Reduced tissue carnitine-acylcarnitine translocase activity


Reduced circulating 6-pyruvoyltetrahydropterin synthase activity


Reduced tissue mannosyl-oligosaccharide glucosidase activity


Reduced tissue 3-methylglutaconyl-CoA hydratase activity


Reduced tissue gamma-glutamyltransferase activity


Elevated urinary isovalerylglycine level


Elevated urinary 2-methyl-3-hydroxybutyric acid level


Elevated urinary 7-hydroxyoctanoic acid level


Elevated urinary 3-hydroxyisobutyric acid level


Elevated urinary 3,4-Dihydroxybutyric acid level


Elevated circulating chitotriosidase activity


Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts


Reduced muscle glycogen debrancher enzyme activity


Reduced tissue UDP-glucuronyl-transferase activity


Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts


Elevated urinary pyrroline hydroxycarboxylic acid level


Elevated urinary N-tau-ribosylhistidine level


Elevated urinary ureidoisobutyric acid level


Elevated urinary N-carbamyl-beta-aminoisobutyric acid level


Reduced hepatic glyoxylate reductase activity


Papillary dermis eosinophilic hyaline material


Elevated muscle fiber laminin alpha 5 expression


Elevated urinary mevalonate lactone level


Reduced circulating NT-proANP concentration


Elevated circulating 1-pyrroline-5-carboxylic acid concentration


Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity


Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration


Elevated circulating heptacarboxylporphyrin concentration


Reduced tissue fatty aldehyde dehydrogenase activity


Reduced tissue guanidinoacetate methyltransferase activity


Reduced erythrocyte galactokinase activity


Elevated circulating type I procollagen aminoterminal propeptide concentration


Decreased tissue S-adenosylhomocysteine hydrolase activity


Elevated erythrocyte AICA-ribotide concentration


Elevated circulating monomethyl sterol concentration


Elevated circulating dimethyl sterol concentration


Elevated urinary 5-hydroxyindoleacetic acid level


Elevated circulating thiosulfate concentration


Elevated circulating 3-hydroxykynurenine concentration


Reduced tissue phosphomannomutase activity


Reduced tissue phosphomannose isomerase activity


Reduced tissue palmitoyl-protein thioesterase activity


Elevated urinary 2,8-dihydroxyadenine level


Elevated urinary phosphohydroxylysine level


Elevated circulating beta-glucuronidase activity


Elevated circulating bile alcohol concentration


Reduced C27 3beta-HSD activity in cultured fibroblasts


Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts


Diminished tissue fumarylacetoacetate hydrolase activity


Reduced tissue glycine cleavage enzyme activity


Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts


Elevated urinary gamma-glutamylcysteine level


Decreased circulating sulfate concentration


Diminished tissue very long-chain acyl-CoA dehydrogenase activity


Delayed distal femoral epiphyseal ossification


Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay


Diminished tissue alpha-L-iduronidase activity


Diminished tissue dihydropteridine reductase activity


Diminished circulating hyaluronidase activity


Diminished sulfotransferase activity in cultured fibroblasts


Reduced hepatic glycogen phosphorylase activity


Elevated circulating 4-hydroxybutyric acid concentration


Pupillary hypersensitivity to parasympathomimetic agents


Lack of pupillary response to hydroxyamphetamine


Elevated urine hydroxyphenyllactic acid level


Positive gastric CMV intranuclear inclusions


Elevated urine glucose tetrasaccharide level


Increased urine 4-hydroxy-2-oxoglutarate level


Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts


Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts


Reduced epidermal collagen IV alpha 5 chain staining


Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio


Elevated circulating methysterol concentration


Elevated circulating glucosylsphingosine concentration


Reduced circulating progranulin concentration


immunodeficiency-centromeric instability-facial anomalies syndrome


keratosis follicularis spinulosa decalvans


muscular dystrophy-dystroglycanopathy, type A


microcephaly, short stature, and impaired glucose metabolism 1


prenatal-onset spinal muscular atrophy with congenital bone fractures


striatal degeneration, autosomal dominant


autosomal dominant polycystic liver disease


non-arteritic anterior ischemic optic neuropathy


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


central nervous system organ benign neoplasm


central nervous system primitive neuroectodermal neoplasm


anomalous left coronary artery from the pulmonary artery


myopathy, lactic acidosis, and sideroblastic anemia


agenesis of the corpus callosum with peripheral neuropathy


arrhythmogenic right ventricular dysplasia 13


autosomal recessive nonsyndromic hearing loss 5


vitamin K deficiency hemorrhagic disease


hematopoietic and lymphoid system neoplasm


hereditary papillary renal cell carcinoma


urinary bladder small cell neuroendocrine carcinoma


chronic lymphoproliferative disorder of NK-cells


pancreatic intraductal papillary-mucinous neoplasm


atypical chronic myeloid leukemia, BCR-ABL1 negative


nodular sclerosis classical Hodgkin lymphoma


autosomal dominant polycystic kidney disease


celiac artery stenosis from compression by median arcuate ligament of diaphragm


acute myeloid leukemia with minimal differentiation


acute myeloblastic leukemia without maturation


myelodysplastic syndrome with single lineage dysplasia


attention deficit hyperactivity disorder, inattentive type


sinus histiocytosis with massive lymphadenopathy


testicular non-seminomatous germ cell tumor


thyroid gland undifferentiated (anaplastic) carcinoma


chronic inflammatory demyelinating polyradiculoneuropathy


Acrodysostosis 1 with or without hormone resistance


punctate palmoplantar keratoderma type III


acromegaloid changes, cutis verticis gyrata, and corneal leukoma


growth hormone secreting pituitary adenoma 1


restless legs syndrome, susceptibility to, 1


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


alacrima, congenital, autosomal dominant


autosomal dominant palmoplantar keratoderma and congenital alopecia


amastia, bilateral, with ureteral triplication and dysmorphism


amelia and terminal transverse hemimelia


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


amyotrophic lateral sclerosis-parkinsonism-dementia complex


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


congenital dyserythropoietic anemia type 3


angioma serpiginosum, autosomal dominant


isolated anhidrosis with normal sweat glands


aniridia, microcornea, and spontaneously Reabsorbed cataract


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


spondyloarthropathy, susceptibility to, 1


diffuse idiopathic skeletal hyperostosis


congenital total pulmonary venous return anomaly


aortic arch anomaly-facial dysmorphism-intellectual disability syndrome


aortic arch interruption, facial palsy, and retinal coloboma


arrhythmogenic right ventricular dysplasia 1


arteriovenous malformations of the brain


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


arthrogryposis-like hand anomaly-sensorineural deafness syndrome


atresia of external auditory canal and conductive deafness


helicoid peripapillary chorioretinal degeneration


Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities


diaphyseal medullary stenosis-bone malignancy syndrome


Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay


brachydactyly-preaxial hallux varus syndrome


brachydactyly, type E, with atrial septal defect, type 2


progressive familial heart block, type 1A


bundle branch block, familial isolated complete right


calcific aortic disease with immunologic abnormalities, familial


cancer, familial, with in vitro Radioresistance


canine teeth, absence of upper permanent


Carabelli anomaly of maxillary molar teeth


hereditary hypercarotenemia and vitamin A deficiency


cataract-aberrant oral frenula-growth delay syndrome


self-limited epilepsy with centrotemporal spikes


cervical hypertrichosis with underlying kyphoscoliosis


Klippel-Feil syndrome 1, autosomal dominant


autosomal dominant chondrodysplasia punctata


chondrodysplasia punctata, tibial-metacarpal type


chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


split-hand/foot malformation with long bone deficiency 1


autosomal dominant popliteal pterygium syndrome


familial cold autoinflammatory syndrome 1


coloboma of macula-brachydactyly type B syndrome


uveal coloboma-cleft lip and palate-intellectual disability


cornea guttata with anterior polar cataracts


posterior polymorphous corneal dystrophy 1


idiopathic spontaneous coronary artery dissection


congenitally short costocoracoid ligament


craniometaphyseal dysplasia, autosomal dominant


cryptomicrotia-brachydactyly-excess fingertip arch syndrome


mitochondrial complex III deficiency nuclear type 1


autosomal dominant deafness - onychodystrophy syndrome


deafness-ear malformation-facial palsy syndrome


autosomal dominant nonsyndromic hearing loss 1


deafness, sensorineural, with peripheral neuropathy and arterial disease


deafness with anhidrotic ectodermal dysplasia


optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


dementia/parkinsonism with non-Alzheimer amyloid plaques


dentin dysplasia-sclerotic bones syndrome


congenital unilateral hypoplasia of depressor anguli oris


diabetes insipidus, nephrogenic, autosomal


maturity-onset diabetes of the young type 1


maturity-onset diabetes of the young type 2


digitotalar dysmorphism; ulnar drift, hereditary


short stature-valvular heart disease-characteristic facies syndrome


distichiasis with congenital anomalies of the heart and peripheral vasculature


calvarial doughnut lesions-bone fragility syndrome


duodenal ulcer due to antral G-cell hyperfunction


autosomal dominant Kenny-Caffey syndrome


hereditary benign intraepithelial dyskeratosis


early-onset generalized limb-onset dystonia


thickened earlobes-conductive deafness syndrome


ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant


ectodermal dysplasia, trichoodontoonychial type


ectopia lentis 1, isolated, autosomal dominant


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1


Ehlers-Danlos syndrome, hypermobility type


autosomal dominant Ehlers-Danlos syndrome, vascular type


Ehlers-Danlos syndrome, arthrochalasia type


Ehlers-Danlos syndrome, spondylodysplastic type


Ehlers-Danlos syndrome, periodontitis type


electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon


electroencephalographic peculiarity: fronto-precentral beta wave groups


myeloproliferative disorder, chronic, with eosinophilia


transient bullous dermolysis of the newborn


generalized dominant dystrophic epidermolysis bullosa


epidermolysis bullosa simplex 1A, generalized severe


epidermolysis bullosa simplex 1C, localized


pretibial dystrophic epidermolysis bullosa


epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase


epidermolysis bullosa simplex 1B, generalized intermediate


epidermolysis bullosa simplex 5A, Ogna type


epidermolysis bullosa simplex 2F, with mottled pigmentation


epidermolysis bullosa with congenital localized absence of skin and deformity of nails


self-limited childhood occipital epilepsy


multiple epiphyseal dysplasia, Beighton type


primary familial polycythemia due to EPO receptor mutation


exostoses-anetodermia-brachydactyly type E syndrome


external auditory canal atresia-vertical talus-hypertelorism syndrome


familial recurrent peripheral facial palsy


factor 5 excess with spontaneous thrombosis


factor VII and Factor VIII, combined deficiency of


factor VIII and Factor IX, combined deficiency of


factor 9 and Factor XI, combined deficiency of


familial Mediterranean fever, autosomal dominant


congenital fibrosis of extraocular muscles


focal epithelial hyperplasia of the oral mucosa


familial congenital palsy of trochlear nerve


chromosome 16p12.1 deletion syndrome, 520kb


Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness


hereditary diffuse gastric adenocarcinoma


globulin anomaly involving beta (2A)-globulin


multinodular goiter-cystic kidney-polydactyly syndrome


progressive familial heart block type II


cavernous hemangiomas of face-supraumbilical midline raphe syndrome


oculoauriculovertebral spectrum with radial defects


alpha thalassemia-intellectual disability syndrome type 1


hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain